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    IKZF1 IKAROS family zinc finger 1 (Ikaros) [ Homo sapiens ]

    Gene ID: 10320, updated on 11-May-2012

    Summary

    Official Symbol
    IKZF1provided by HGNC
    Official Full Name
    IKAROS family zinc finger 1 (Ikaros)provided by HGNC
    Primary source
    HGNC:13176
    See related
    Ensembl:ENSG00000185811; HPRD:04318; MIM:603023; Vega:OTTHUMG00000155907
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IK1; LYF1; hIk-1; IKAROS; PRO0758; ZNFN1A1; Hs.54452
    Summary
    This gene encodes a transcription factor that belongs to the family of zinc-finger DNA binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. All isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homodimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and contain the nuclear localization signal, resulting in members with and without DNA-binding properties. Only few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and thought to function as dominant negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2011]
    Annotation information
    Annotation category: suggests misassembly
    Annotation category: partial on reference assembly

    Genomic context

    Location :
    7p13-p11.1
    Sequence :
    Chromosome: 7; NC_000007.13 (50344378..50367358)
    Chromosome: 7; NC_000007.13 (50444231..50472799)
    See IKZF1 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein-like 2 (nucleolar) pseudogene Neighboring gene zona pellucida binding protein Neighboring gene chromosome 7 open reading frame 72 Neighboring gene uncharacterized LOC100507042 Neighboring gene fidgetin-like 1 Neighboring gene uncharacterized LOC100129427 Neighboring gene dopa decarboxylase (aromatic L-amino acid decarboxylase)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13422 Q96CW1 AP2M1    HPRD  PubMed  
    Q13422 Q12873 CHD3    HPRD  PubMed  
    Q13422 Q13363 CTBP1    HPRD  PubMed  
    Q13422 Q00403 GTF2B    HPRD  PubMed  
    Q13422 Q13547 HDAC1    HPRD  PubMed  
    Q13422 Q92769 HDAC2    HPRD  PubMed  
    Q13422 Q9UKS7 IKZF2    HPRD  PubMed  
    Q13422 Q9UKT9 IKZF3    HPRD  PubMed  
    Q13422 Zinc finger protein, subfamily 1A, member 4 IKZF4    HPRD  PubMed  
    Q13422 Q99708 RBBP8    HPRD  PubMed  
    Q13422 O00422 SAP18    HPRD  PubMed  
    Q13422 Q96ST3 SIN3A    HPRD  PubMed  
    Q13422 O75182 SIN3B    HPRD  PubMed  
    Q13422 P51532 SMARCA4    HPRD  PubMed  
    Q13422 P20226 TBP    HPRD  PubMed  
    Q13422 P63279 UBE2I    HPRD  PubMed  
    BioGRID:115604 BioGRID:107587 AP2M1    BioGRID  PubMed Two-hybrid 
    BioGRID:115604 BioGRID:115555 CDK2AP2    BioGRID  PubMed Two-hybrid 
    BioGRID:115604 BioGRID:107533 CHD4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:119824 CSNK1G1    BioGRID  PubMed Two-hybrid 
    BioGRID:115604 BioGRID:107869 CTBP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:115604 BioGRID:108893 GATA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:109214 GTF2B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115604 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:109316 HDAC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:114368 HDAC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:115106 HDAC4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:119613 HDAC7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:241423 Hdac1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:116485 IKZF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:122146 IKZF4    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:115604 BioGRID:122147 IKZF5    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:115604 BioGRID:204702 Ikzf3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:114974 NCOR2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:116237 NUDT21    BioGRID  PubMed Two-hybrid 
    BioGRID:115604 BioGRID:111867 RBBP8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:117439 SIN3A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:116901 SIN3B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:112489 SMARCE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:203256 Sin3a    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:203257 Sin3b    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115604 BioGRID:112771 TBP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115604 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 
    BioGRID:115604 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Peyer's patch development IEA
    Inferred from Electronic Annotation
    more info
     
    T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    gland development IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    lymph node development IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    natural killer cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NK T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neutrophil differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centromeric heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA-binding protein Ikaros
    Names
    DNA-binding protein Ikaros
    CLL-associated antigen KW-6
    Ikaros (zinc finger protein)
    ikaros family zinc finger protein 1
    lymphoid transcription factor LyF-1
    zinc finger protein, subfamily 1A, 1 (Ikaros)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001220765.1NP_001207694.1  DNA-binding protein Ikaros isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2, also known as Ik-x) missing an internal protein segment compared to isoform 1. This isoform contains requisite three N-terminal zinc finger motifs for high affinity DNA binding (PMID:11489963).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Related
      ENSP00000352123, OTTHUMP00000208888, ENST00000359197, OTTHUMT00000342243
      Conserved Domains (1) summary
      pfam13465
      Location:132156
      Blast Score: 98
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001220766.1NP_001207695.1  DNA-binding protein Ikaros isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the 5' region compared to variant 1. This results in a shorter isoform (3, also known as Ik-2) missing an internal protein segment compared to isoform 1. This isoform is localized in the nucleus, and contains requisite three N-terminal zinc finger motifs for high affinity DNA binding (PMID:9892693).
      Source sequence(s)
      AK303586, BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Related
      ENSP00000342750, ENST00000343574
      Conserved Domains (2) summary
      pfam13465
      Location:7297
      Blast Score: 89
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:5980
      Blast Score: 75
      zf-C2H2; Zinc finger, C2H2 type
    3. NM_001220767.1NP_001207696.1  DNA-binding protein Ikaros isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame coding exon in the 5' region, and uses an alternate in-frame donor splice site at another coding exon compared to variant 1. This results in a shorter isoform (4, also known as Ik-2(del)) missing two internal protein segments compared to isoform 1. This isoform contains requisite three N-terminal zinc finger motifs for high affinity DNA binding (PMID:9892693).
      Source sequence(s)
      AK303586, BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Conserved Domains (2) summary
      pfam13465
      Location:7297
      Blast Score: 89
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:5980
      Blast Score: 75
      zf-C2H2; Zinc finger, C2H2 type
    4. NM_001220768.1NP_001207697.1  DNA-binding protein Ikaros isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (5, also known as Ik-3) missing an internal protein segment compared to isoform 1. This isoform contains requisite three N-terminal zinc finger motifs for high affinity DNA binding.
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Related
      ENSP00000349928, ENST00000357364
      Conserved Domains (1) summary
      pfam13465
      Location:132156
      Blast Score: 97
      zf-H2C2_2; Zinc-finger double domain
    5. NM_001220769.1NP_001207698.1  DNA-binding protein Ikaros isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (6, also known as Ik-4) missing two internal protein segments compared to isoform 1. This isoform contains only two N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      AK303586, BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Conserved Domains (2) summary
      pfam13465
      Location:7297
      Blast Score: 91
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:5980
      Blast Score: 76
      zf-C2H2; Zinc finger, C2H2 type
    6. NM_001220770.1NP_001207699.1  DNA-binding protein Ikaros isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon compared to variant 1. This results in a shorter isoform (7, also known as Ik-4(del)) missing three internal protein segments compared to isoform 1. This isoform contains only two N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      AK303586, BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Conserved Domains (2) summary
      pfam13465
      Location:7297
      Blast Score: 90
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:5980
      Blast Score: 76
      zf-C2H2; Zinc finger, C2H2 type
    7. NM_001220771.1NP_001207700.1  DNA-binding protein Ikaros isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (8, also known as Ik-5) missing an internal protein segment compared to isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant negative isoform.
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Related
      ENSP00000342485, ENST00000349824
    8. NM_001220772.1NP_001207701.1  DNA-binding protein Ikaros isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks four consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (9, also known as Ik-6) missing an internal protein segment compared to isoform 1. This isoform contains no N-terminal zinc finger motif, is localized in the cytoplasm, and functions as a non-DNA-binding, dominant negative isoform (PMIDs:12937159, 10463586).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
    9. NM_001220773.1NP_001207702.1  DNA-binding protein Ikaros isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (10, also known as Ik-7) missing an internal protein segment compared to isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
    10. NM_001220774.1NP_001207703.1  DNA-binding protein Ikaros isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks two consecutive in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon compared to variant 1. This results in a shorter isoform (11, also known as Ik-7(del)) missing two internal protein segments compared to isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
    11. NM_001220775.1NP_001207704.1  DNA-binding protein Ikaros isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks three consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (12, also known as Ik-8) missing an internal protein segment compared to isoform 1. This isoform contains no N-terminal zinc finger motif, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
    12. NM_001220776.1NP_001207705.1  DNA-binding protein Ikaros isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) lacks three consecutive in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon compared to variant 1. This results in a shorter isoform (13, also known as Ik-8(del)) missing two internal protein segments compared to isoform 1. This isoform contains no N-terminal zinc finger motif, and represents a non-DNA-binding, dominant negative isoform (PMID:9892693).
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
    13. NM_006060.4NP_006051.1  DNA-binding protein Ikaros isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Ik-1). This isoform contains four N-terminal zinc finger motifs, binds DNA, and is localized in the nucleus.
      Source sequence(s)
      BC018349, BC075820, BI767330, CA447462, DA944555, U40462
      UniProtKB/Swiss-Prot
      Q13422
      Related
      ENSP00000331614, OTTHUMP00000208887, ENST00000331340, OTTHUMT00000342242
      Conserved Domains (2) summary
      COG5048
      Location:143405
      Blast Score: 84
      COG5048; FOG: Zn-finger [General function prediction only]
      pfam13465
      Location:132156
      Blast Score: 96
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      50344378..50367358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      50224730..50247709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      50381631..50478870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC124014.3 (57315..62167) None
    genomic AC233268.2 (3274..26253) None
    genomic CH236955.1 EAL23900.1
    genomic CH471128.2 EAW60977.1
      EAW60978.1
      EAW60979.1
      EAW60980.1
      EAW60981.1
      EAW60982.1
    mRNA AF116605.1 AAF71030.1
    mRNA AF432219.1 AAL99925.1
    mRNA AK303586.1 BAG64603.1
    mRNA AK308411.1 None
    mRNA AM085310.1 CAJ29975.1
    mRNA AY377974.1 AAR84585.1
    mRNA BC018349.1 AAH18349.1
    mRNA BC064594.1 None
    mRNA BC075820.1 None
    mRNA BF797348.1 None
    mRNA BI767330.1 None
    mRNA BT009836.1 AAP88838.1
    mRNA BU665456.1 None
    mRNA CA447462.1 None
    mRNA DA944555.1 None
    mRNA S80876.1 AAB50683.1
    mRNA U40462.1 AAC50459.1
    other-genetic HQ448309.1 ADQ32789.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13422.1 GenPept UniProtKB/Swiss-Prot:Q13422
    Q3T907 GenPept UniProtKB/TrEMBL:Q3T907
    Q69BM4 GenPept UniProtKB/TrEMBL:Q69BM4
    Q8TDG7 GenPept UniProtKB/TrEMBL:Q8TDG7
    Q9P1M1 GenPept UniProtKB/TrEMBL:Q9P1M1

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